rs80357789

minus

Geno	Mag	Summary
(-;TT)	6	BRCA1 variant considered pathogenic for breast cancer
(TT;TT)	0	common in clinvar

Make rs80357789(-;-)

Reference

GRCh38 38.1/142

Chromosome

17

Position

43094733

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357789
dbSNP (classic)	rs80357789
ClinGen	rs80357789
ebi	rs80357789
HLI	rs80357789
Exac	rs80357789
Gnomad	rs80357789
Varsome	rs80357789
LitVar	rs80357789
Map	rs80357789
PheGenI	rs80357789
Biobank	rs80357789
1000 genomes	rs80357789
hgdp	rs80357789
ensembl	rs80357789
geneview	rs80357789
scholar	rs80357789
google	rs80357789
pharmgkb	rs80357789
gwascentral	rs80357789
openSNP	rs80357789
23andMe	rs80357789
SNPshot	rs80357789
SNPdbe	rs80357789
MSV3d	rs80357789
GWAS Ctlg	rs80357789

Status

Merged into rs80357724

Max Magnitude

6

rs80357789, also known as 916delTT, c.797_798delTT and p.Val266=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk
Alt
Reference	Rs80357789(TT;TT)
Significance	Pathogenic
Disease	Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed	1
HGVS	NC_000017.10:g.41246749_41246750delAA
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000031279.8, RCV000049141.5, RCV000131867.3, RCV000167858.1,